Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. - Wikidata - wikimedia - TriplyDB

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

http://www.wikidata.org/entity/Q35238974

about

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.Identification of a new candidate locus for uric acid nephrolithiasis.Luminal heterodimeric amino acid transporter defective in cystinuria Cystinuria: an inborn cause of urolithiasis New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.Clinical and genetic analysis of patients with cystinuria in the United Kingdom.Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

P2860

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P2860

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

http://www.wikidata.org/entity/Q35238974

description

1997 nî lūn-bûn

@nan

1997 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի մարտին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

name

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

@ast

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

@en

type

label

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

@ast

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

@en

prefLabel

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

@ast

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

@en

P1433

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P932

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P1433

American Journal of Human Genetics

P1476

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

@en

P2093

A Ponzone

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A Totaro

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A Zorzano

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J García

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L Bisceglia

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L Feliubadaló

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L Zelante

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M Gallucci

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M J Calonge

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M Palacín

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P2860

Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Mutations of the basic amino acid transporter gene associated with cystinuria

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity

Mutations in the SLC3A1 transporter gene in cystinuria

A comprehensive genetic map of the human genome based on 5,264 microsatellites

The 1993-94 Généthon human genetic linkage map

Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes

P304

611-616

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P31

scholarly article

P407

P433

3

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P478

60

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P50

Xavier Estivill i Pallejà

P577

1997-03-01T00:00:00Z

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P698

9042921

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P932

1712527

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